SMA Newborn Screening Kits

Description

The Scottish Newborn Screening Laboratory has been commissioned to participate in the in-service evaluation for Spinal Muscular Atrophy (SMA) organised by the National Screening Committee. NHSGG&C require newborn screening kits that measure both SMN1 and SMN2 genes simultaneously. The SMN2 copy number must be screened for at the same time as the SMN1 deletion in keeping with the Scottish screening protocol. The requirement is to screen dried blood spot samples from newborn babies for Spinal Muscular Atrophy (SMA).